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  • Iwarsson, ErikKarolinska Institutet (författare)

Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis

  • Artikel/kapitelEngelska2017

Förlag, utgivningsår, omfång ...

  • 2016-12-09
  • WILEY-BLACKWELL,2017
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:liu-134484
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-134484URI
  • https://doi.org/10.1111/aogs.13047DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:134973573URI
  • https://gup.ub.gu.se/publication/249139URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:for swepub-publicationtype

Anmärkningar

  • Funding Agencies|Swedish Agency for Health Technology Assessment and Assessment of Social Service (SBU); Stockholm County Council
  • IntroductionThe aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies. Material and methodsSystematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model. ResultsIn a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999). ConclusionsThis is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Jacobsson, Bo,1960Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology(Swepub:gu)xjacbo (författare)
  • Dagerhamn, JessicaSwedish Agency Health Technology Assessment and Assessment, Sweden (författare)
  • Davidson, ThomasLinköpings universitet,Avdelningen för hälso- och sjukvårdsanalys,Medicinska fakulteten,Swedish Agency Health Technology Assessment and Assessment, Sweden(Swepub:liu)thoda76 (författare)
  • Bernabe, EduardoKings Coll and St Thomas Hospital, England (författare)
  • Heibert Arnlind, MarianneKarolinska Institute, Sweden (författare)
  • Karolinska InstitutetInstitutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Acta Obstetricia et Gynecologica Scandinavica: WILEY-BLACKWELL96:10001-63491600-0412

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